Marfan Syndrome - Causes

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What causes Marfan syndrome?

Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life.

The defective gene that causes Marfan syndrome can be inherited: The child of a person who has Marfan syndrome has a 50 percent chance of inheriting the disease. Sometimes a new gene defect occurs during the formation of sperm or egg cells, making it possible for two parents without the disease to have a child with the disease. But this is rare. Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception.

Although everyone with Marfan syndrome has a defect in the same gene, different mutations are found in different families, and not everyone experiences the same characteristics to the same degree. In other words, the defective gene expresses itself in different ways in different people. This phenomena is known as variable expression. Scientists do not yet understand why variable expression occurs in people with Marfan syndrome.

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See what others are saying

Comment from: stacey.caulk72, 35-44 Female (Patient) Published: July 25

I was expecting my 4th child at age 26. I later found out that my mom had Marfan's in 1972, but since research was just beginning, nothing was done. I had a Mitral Valve Replacement with St. Jude valve about 10 years ago and I have been doing just fine ever since.

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Comment from: Angry Mom, 13-18 Male (Caregiver) Published: October 11

My son recently passed away. We had to be told by the Medical Examiner that he had Marfan Syndrome. When my son was born, he was premature, had club feet, double hernia surgery and a collapsed ear drum and a hole in the other ear. He had a number of specialists that he saw over his 18 years and not one of them diagnosed this. I'm angry right now because he is no longer with me and after reading and researching I find out that there were things that could have been done to extend his life had we known. I will be calling each and every one of his doctors to let them know that had they took the time his death could have been prevented...I guess all doctors see are dollar signs these days...they won't even give you test results over the phone because then they can't bill for a visit. My son suffered horribly for 18 years...it's sad he had to die to be pain free.

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